Publications:

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 4250T>A; Leu1417*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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RNA mis-splicing in disease.

Nature Reviews. Genetics

Scotti, Marina M MM; Swanson, Maurice S MS

Publication Date: 2016-01

Variant appearance in text: DMD: 4250T>A

PubMed Link: 26593421

Variant Present in the following documents:

• Main text

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FUBP1: a new protagonist in splicing regulation of the DMD gene.

Nucleic Acids Research

Miro, Julie J; Laaref, Abdelhamid Mahdi AM; Rofidal, Valérie V; Lagrafeuille, Rosyne R; Hem, Sonia S; Thorel, Delphine D; Méchin, Déborah D; Mamchaoui, Kamel K; Mouly, Vincent V; Claustres, Mireille M; Tuffery-Giraud, Sylvie S

Publication Date: 2015-02-27

Variant appearance in text: DMD: Leu1417*

PubMed Link: 25662218

Variant Present in the following documents:

• Main text
• gkv086.pdf

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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation

Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB

Publication Date: 2011-03

Variant appearance in text: DMD: 4250T>A; Leu1417X

PubMed Link: 21972111

Variant Present in the following documents:

• Main text

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research

Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C

Publication Date: 2009-05

Variant appearance in text: DMD: 4250T>A

PubMed Link: 19339519

Variant Present in the following documents:

• Main text
• gkp215.pdf

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Rapid direct sequence analysis of the dystrophin gene.

American Journal Of Human Genetics

Flanigan, Kevin M KM; von Niederhausern, Andrew A; Dunn, Diane M DM; Alder, Jonathan J; Mendell, Jerry R JR; Weiss, Robert B RB

Publication Date: 2003-04

Variant appearance in text: DMD: Leu1417X

PubMed Link: 12632325

Variant Present in the following documents:

• Main text

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